Test Directory

Non-Prenatal Specimens

Prenatal Specimens

Either specimen type below is acceptable.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.

• Transport at room temperature within 24 hours.
• If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
• Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 

• Improperly labeled specimen (minimum of two patient identifiers)
• Inappropriate specimen type
• Incomplete or incorrect test request form
• Insufficient volume
• Specimen has leaked in transit
• Specimen without a test order

• AI
• DI
• DD

Heritable dental developmental anomalies include amelogenesis imperfecta (AI), dentinogenesis imperfecta (DI), and dentin dysplasia (DD). AI, also called congenital enamel hypoplasia, is an inherited defect of dental enamel formation. The teeth are small, discolored, pitted or grooved, and prone to rapid wear and breakage. It affects all or nearly all of the teeth in both the primary and permanent dentitions. DI is a hereditary disorder of dentin formation. It is characterized by blue-gray or amber brown and opalescent teeth, bulbous shaped crowns, narrow roots, and small or obliterated root canals. Both primary and secondary teeth are affected. DI is an entity clearly distinct from osteogenesis imperfecta. DD represents another inherited disorder of den­tin formation. Typically, the primary teeth appear opalescent, but secondary teeth are normally colored. The roots of the teeth are of normal shape and morphology. The pulp chambers of the secondary teeth are thistle-shaped. Most teeth show accumulations of pulp stones in these unusually shaped pulp chambers.

The Amelogenesis imperfecta and related disorders NGS panel consists of sixteen genes: AMELX, C4ORF26, DLX3, DSPP, ENAM, FAM20A, FAM83H, GPR68, ITGB6, KLK4, LAMA3, LAMB3, MMP20, SLC24A4, SMOC2 and WDR72.